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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Heimler syndrome 1
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Accession:DOID:0080623 term browser browse the term
Definition:A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: Deafness Enamel Hypoplasia Nail Defects;   HMLR1;   Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects;   Heimler syndrome;   PBD1C;   PEROXISOME BIOGENESIS DISORDER 1C;   bilateral sensorineural hearing loss, enamel hypoplasia and nail defects;   peroxisomal biogenesis disorder 1C;   sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
 broad_synonym: Deafness-enamel hypoplasia-nail defects syndrome
 primary_id: MESH:C535994
 alt_id: OMIM:234580


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Heimler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C		 OMIM
CTD
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Anatomical Pathological Conditions 2655
        Malformed Nails 30
          Heimler syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            mouth disease 1012
              tooth disease 443
                teeth hard tissue disease 119
                  dental enamel hypoplasia 110
                    amelogenesis imperfecta 58
                      Heimler syndrome 1 4
paths to the root